Ted Talks Daily – The world’s rarest diseases — and how they impact everyone | Anna Greka

Intro

In this episode of Ted Talks Daily, Anna Greka discusses the world’s rarest diseases and how they impact everyone. She highlights the importance of genetic research and molecular sleuthing in solving medical mysteries and finding treatments for various diseases.

Main Takeaways

The Impact of Genetic Diseases

• A single extra letter in DNA can lead to disease and early death
• Genetic diseases are a critical scientific and research priority for all of us
• Rare genetic diseases are collectively common, affecting 10% of all people in North America
• Out of 8,000 genes known to cause genetic diseases, only 500 have developed treatments

Molecular Sleuthing and Discoveries

• Researchers can solve medical mysteries through molecular-level sleuthing
• Molecular sleuthing is central to the scientific method and has led humans to amazing discoveries
• The discovery of a mutation in a gene called Mach 1 led to unexpected insights into fundamental biology and opportunities for the treatment of many diseases
• Decades ago, testing experimental conditions was limited to just a handful of petri dishes, but now state-of-the-art technology allows for the analysis of thousands of images in a day’s work

Insights and Treatments

• The discovery of a mutation in the Mach 1 gene led to insights into the accumulation of misshapen proteins inside cells, causing toxic proteinopathies like ALS and Alzheimer’s
• The team identified a drug-like compound that can remove the mutant protein by steering the cargo trucks into the lysosome, the cell’s trash disposal and recycling facility
• The same biology causing kidney disease is also operative in retinitis pigmentosa, a form of blindness caused by a different misshapen protein accumulating in cells in the eye
• Ongoing studies suggest that the same may be true for different misshapen proteins accumulating in cells in the brain, causing some forms of Alzheimer’s
• Over 50 disorders could be treated with the same approach used for a rare genetic disease
• Understanding one disorder has unlocked insights for the treatment of many more diseases affecting distant parts of the body

Partnerships in Scientific Journeys

• Patients and their families are becoming partners in scientific journeys into the unknown

Summary

The Impact of Genetic Diseases

Genetic diseases can have devastating effects, with even a single extra letter in DNA leading to disease and early death. These diseases are a significant scientific and research priority, as they collectively affect 10% of all people in North America. However, out of the 8,000 genes known to cause genetic diseases, only 500 have developed treatments. This highlights the urgent need for further research and treatment development.

Molecular Sleuthing and Discoveries

Researchers have the ability to solve medical mysteries through molecular-level sleuthing. By analyzing thousands of images using state-of-the-art technology, they can uncover valuable insights. The discovery of a mutation in the Mach 1 gene, for example, has provided unexpected insights into fundamental biology and opportunities for the treatment of various diseases.

Insights and Treatments

The discovery of the Mach 1 gene mutation has shed light on the accumulation of misshapen proteins inside cells, leading to toxic proteinopathies like ALS and Alzheimer’s. Researchers have identified a drug-like compound that can remove the mutant protein by directing it to the lysosome, the cell’s trash disposal and recycling facility. This approach may also hold promise for treating other diseases, such as retinitis pigmentosa and certain forms of Alzheimer’s.

Partnerships in Scientific Journeys

Patients and their families are increasingly becoming partners in scientific journeys into the unknown. Their involvement and insights play a crucial role in advancing research and finding effective treatments for rare genetic diseases.

Conclusion

The study of rare genetic diseases and molecular sleuthing is vital for understanding the complexities of human biology and developing treatments. By unraveling the mysteries of these diseases, researchers can unlock insights that have far-reaching implications for various conditions affecting different parts of the body. Collaboration between scientists, patients, and their families is key to making significant progress in this field and improving the lives of those affected by rare genetic diseases.